CEP162[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	ME1, MEI4 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 155103	GRCh38/hg38 6q14.2-14.3(chr6:83656740-84324523)x4	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 151973	GRCh38/hg38 6q14.2-14.3(chr6:83656740-84324523)x3	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 59504	GRCh38/hg38 6q14.2-14.3(chr6:83656740-84305263)x3	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 153810	GRCh38/hg38 6q14.2-14.3(chr6:83664023-84334552)x3	CEP162, CYB5R4 +18 more	Copy number gain	See cases	GUncertain significance
Select item 59522	GRCh38/hg38 6q14.2-14.3(chr6:83680568-84270992)x3	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 144628	GRCh38/hg38 6q14.2-14.3(chr6:83713534-84298234)x3	CEP162, CYB5R4 +13 more	Copy number gain	See cases	GUncertain significance
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 3142615	NM_014895.4(CEP162):c.4160G>T (p.Gly1387Val)	CEP162, MRAP2 (G1311V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142614	NM_014895.4(CEP162):c.4153C>T (p.Arg1385Trp)	CEP162, MRAP2 (R1309W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142613	NM_014895.4(CEP162):c.4142G>A (p.Arg1381Gln)	CEP162, MRAP2 (R1381Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511880	NM_014895.4(CEP162):c.4091G>A (p.Arg1364His)	CEP162, MRAP2 (R1288H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142612	NM_014895.4(CEP162):c.4090C>T (p.Arg1364Cys)	CEP162, MRAP2 (R1288C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390051	NM_014895.4(CEP162):c.4067A>G (p.Lys1356Arg)	CEP162, MRAP2 (K1356R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656728	NM_014895.4(CEP162):c.4050A>G (p.Lys1350=)	CEP162, MRAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2512777	NM_014895.4(CEP162):c.3975A>T (p.Arg1325Ser)	CEP162, MRAP2 (R1249S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517972	NM_014895.4(CEP162):c.3937G>A (p.Val1313Met)	CEP162, MRAP2 (V1313M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553657	NM_014895.4(CEP162):c.3896G>A (p.Arg1299Lys)	CEP162, MRAP2 (R1299K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266875	NM_014895.4(CEP162):c.3859C>A (p.Leu1287Ile)	CEP162 (L1287I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611053	NM_014895.4(CEP162):c.3827C>T (p.Ser1276Phe)	CEP162 (S1276F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142610	NM_014895.4(CEP162):c.3776T>A (p.Leu1259His)	CEP162 (L1183H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233818	NM_014895.4(CEP162):c.3746T>G (p.Leu1249Arg)	CEP162 (L1249R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257563	NM_014895.4(CEP162):c.3609A>T (p.Gln1203His)	CEP162 (Q1203H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142609	NM_014895.4(CEP162):c.3544G>A (p.Glu1182Lys)	CEP162 (E1106K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208150	NM_014895.4(CEP162):c.3530A>G (p.Tyr1177Cys)	CEP162 (Y1101C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142608	NM_014895.4(CEP162):c.3463G>A (p.Asp1155Asn)	CEP162 (D1155N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603236	NM_014895.4(CEP162):c.3389T>G (p.Met1130Arg)	CEP162 (M1130R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142607	NM_014895.4(CEP162):c.3342C>A (p.Asp1114Glu)	CEP162 (D1038E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142606	NM_014895.4(CEP162):c.3208G>T (p.Asp1070Tyr)	CEP162 (D1070Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142605	NM_014895.4(CEP162):c.3091C>G (p.Leu1031Val)	CEP162 (L1031V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142604	NM_014895.4(CEP162):c.3082G>C (p.Glu1028Gln)	CEP162 (E952Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142603	NM_014895.4(CEP162):c.3055C>G (p.His1019Asp)	CEP162 (H1019D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142602	NM_014895.4(CEP162):c.3034C>G (p.Leu1012Val)	CEP162 (L1012V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398920	NM_014895.4(CEP162):c.3025G>A (p.Glu1009Lys)	CEP162 (E1009K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607688	NM_014895.4(CEP162):c.3017A>G (p.Glu1006Gly)	CEP162 (E1006G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216965	NM_014895.4(CEP162):c.2989A>G (p.Met997Val)	CEP162 (M921V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142601	NM_014895.4(CEP162):c.2940T>G (p.Asp980Glu)	CEP162 (D904E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142600	NM_014895.4(CEP162):c.2939A>G (p.Asp980Gly)	CEP162 (D904G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709780	NM_014895.4(CEP162):c.2928G>T (p.Leu976=)	CEP162	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2350186	NM_014895.4(CEP162):c.2912A>G (p.Lys971Arg)	CEP162 (K895R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290700	NM_014895.4(CEP162):c.2860G>A (p.Gly954Ser)	CEP162 (G954S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224739	NM_014895.4(CEP162):c.2833G>A (p.Ala945Thr)	CEP162 (A945T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467658	NM_014895.4(CEP162):c.2828T>C (p.Leu943Ser)	CEP162 (L867S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244854	NM_014895.4(CEP162):c.2761A>G (p.Ile921Val)	CEP162 (I845V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142599	NM_014895.4(CEP162):c.2752G>A (p.Ala918Thr)	CEP162 (A918T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464340	NM_014895.4(CEP162):c.2741A>G (p.Lys914Arg)	CEP162 (K914R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142598	NM_014895.4(CEP162):c.2713A>G (p.Ile905Val)	CEP162 (I905V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487280	NM_014895.4(CEP162):c.2689A>G (p.Lys897Glu)	CEP162 (K897E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216163	NM_014895.4(CEP162):c.2305C>G (p.Leu769Val)	CEP162 (L693V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401602	NM_014895.4(CEP162):c.2300G>A (p.Arg767His)	CEP162 (R691H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2656729	NM_014895.4(CEP162):c.2231G>A (p.Arg744Gln)	CEP162 (R668Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2336153	NM_014895.4(CEP162):c.2048A>G (p.Asn683Ser)	CEP162 (N607S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400750	NM_014895.4(CEP162):c.2006A>G (p.Asn669Ser)	CEP162 (N669S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454768	NM_014895.4(CEP162):c.1888C>G (p.Gln630Glu)	CEP162 (Q554E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560502	NM_014895.4(CEP162):c.1886C>T (p.Ala629Val)	CEP162 (A629V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142595	NM_014895.4(CEP162):c.1882G>T (p.Gly628Cys)	CEP162 (G552C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253527	NM_014895.4(CEP162):c.1876T>C (p.Trp626Arg)	CEP162 (W550R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215700	NM_014895.4(CEP162):c.1853G>A (p.Arg618Lys)	CEP162 (R542K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379403	NM_014895.4(CEP162):c.1646A>G (p.Asn549Ser)	CEP162 (N473S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257046	NM_014895.4(CEP162):c.1534A>G (p.Ser512Gly)	CEP162 (S436G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556588	NM_014895.4(CEP162):c.1505C>T (p.Pro502Leu)	CEP162 (P502L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204187	NM_014895.4(CEP162):c.1480G>A (p.Ala494Thr)	CEP162 (A418T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304467	NM_014895.4(CEP162):c.1460C>A (p.Pro487Gln)	CEP162 (P487Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570315	NM_014895.4(CEP162):c.1154C>T (p.Ser385Phe)	CEP162 (S385F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142593	NM_014895.4(CEP162):c.1082T>G (p.Ile361Ser)	CEP162 (I285S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339939	NM_014895.4(CEP162):c.903T>G (p.His301Gln)	CEP162 (H225Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314108	NM_014895.4(CEP162):c.853A>C (p.Ser285Arg)	CEP162 (S209R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142618	NM_014895.4(CEP162):c.707T>C (p.Met236Thr)	CEP162 (M160T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354116	NM_014895.4(CEP162):c.646A>G (p.Lys216Glu)	CEP162 (K140E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320520	NM_014895.4(CEP162):c.616T>A (p.Leu206Met)	CEP162 (L206M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219575	NM_014895.4(CEP162):c.425T>G (p.Leu142Trp)	CEP162 (L142W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656730	NM_014895.4(CEP162):c.277A>G (p.Ser93Gly)	CEP162 (S17G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3142597	NM_014895.4(CEP162):c.197A>G (p.Tyr66Cys)	CEP162 (Y66C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3142596	NM_014895.4(CEP162):c.196T>C (p.Tyr66His)	CEP162 (Y66H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2517922	NM_014895.4(CEP162):c.185C>A (p.Thr62Lys)	CEP162 (T62K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2264590	NM_014895.4(CEP162):c.154G>A (p.Asp52Asn)	CEP162 (D52N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3142611	NM_014895.4(CEP162):c.38T>G (p.Phe13Cys)	CEP162 (F13C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328147	NM_014895.4(CEP162):c.35A>G (p.Glu12Gly)	CEP162 (E12G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498333	GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1	CEP162, CYB5R4 +18 more	Copy number loss	See cases	GPathogenic
Select item 2427237	NC_000006.11:g.(?_84765038)_(86267798_?)del	CEP162, MRAP2 +3 more	Deletion	not provided	GUncertain significance
Select item 1808383	GRCh37/hg19 6q14.2-14.3(chr6:84373743-85044270)x3	CEP162, CYB5R4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807684	GRCh37/hg19 6q14.2-14.3(chr6:84720708-84922710)x1	CEP162, MRAP2	Copy number loss	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527262	GRCh37/hg19 6q14.2-14.3(chr6:84632996-85244556)	CEP162, CYB5R4 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	KHDC1L, KHDC3L +88 more	Copy number gain	not specified	GPathogenic
Select item 1340905	GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1	CEP162, CGA +20 more	Copy number loss	not provided	GPathogenic
Select item 689041	GRCh37/hg19 6q14.2-14.3(chr6:84369643-85044077)x3	CEP162, CYB5R4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 684916	GRCh37/hg19 6q14.2-14.3(chr6:84354003-85052572)x3	CEP162, CYB5R4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563200	GRCh37/hg19 6q14.2-14.3(chr6:84373742-85044270)x3	CYB5R4, CEP162 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
Select item 443811	GRCh37/hg19 6q14.2-14.3(chr6:84374492-85044270)x3	CEP162, CYB5R4 +3 more	Copy number gain	See cases	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442516	GRCh37/hg19 6q14.2-14.3(chr6:84364140-85044270)x3	CEP162, CYB5R4 +3 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 393723	GRCh37/hg19 6q14.2-14.3(chr6:84366014-84922654)x3	CEP162, CYB5R4 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 98